Spinal muscular atrophy: Clinical validation of a single-tube multiplex real time PCR assay for determination of SMN1 and SMN2 copy numbers

Clinical Biochemistry

Volumn 45, Issue 1-2, 2012, Pages 88-91

  Maranda, Bruno ^a   Fan, Li ^b   Soucy, Jean François ^b   Simard, Louise ^c   Mitchell, Grant A ^b  

^a UNIVERSITÉ DE SHERBROOKE   (Canada)

^b UNIVERSITY OF MONTREAL   (Canada)

^c UNIVERSITY OF MANITOBA   (Canada)

Author keywords

Clinical diagnostics; Gene copy number; Multiplex PCR; Quantitative assay; Real time PCR; SMN1; SMN2; Spinal muscular atrophy

Indexed keywords

SURVIVAL MOTOR NEURON PROTEIN 1; SURVIVAL MOTOR NEURON PROTEIN 2; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; GENE AMPLIFICATION; GENE DELETION; GENOTYPE; HUMAN; HUMAN CELL; MOLECULAR DIAGNOSIS; MULTIPLEX POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DETERMINATION; REPRODUCIBILITY; SPINAL MUSCULAR ATROPHY; VALIDATION STUDY;

ALLELES; BASE SEQUENCE; DNA PRIMERS; GENE DELETION; GENE EXPRESSION REGULATION; GENOTYPE; HOMOZYGOTE; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; REAL-TIME POLYMERASE CHAIN REACTION; REPRODUCIBILITY OF RESULTS; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD; SURVIVAL OF MOTOR NEURON 1 PROTEIN; SURVIVAL OF MOTOR NEURON 2 PROTEIN;

EID: 84855319406     PISSN: 00099120     EISSN: 18732933     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2011.10.019     Document Type: Article

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